Acceptable diagnostic or predictive test for MUTYH-associated polyposis in Northern European Caucasians. For non-Caucasians, order MUTYH-Associated Polyposis (MUTYH) Sequencing (2006191).
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics of MUTYH-Associated Polyposis (MAP): Development of colonic polyps (10-100) with the age of diagnosis occurring in the third decade or older.
Incidence: Less than 1 percent of colorectal cancer cases.
Inheritance: Autosomal recessive.
Penetrance: Greater than 99 percent in untreated individuals.
Cause: Pathogenic biallelic MUTYH gene mutations.
Clinical Sensitivity: 85 percent of MUTYH mutations in Caucasians.
Methodology: Targeted testing for the MUTYH gene mutations c.494A>G (Y165C) and c.1145G>A (G382D) by PCR and bidirectional sequencing.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Mutations in the MUTYH gene, other than Y165C and G382D, are not evaluated.
|Component Test Code*||Component Chart Name||LOINC|
|2004912||MUTYH-Associated Polyposis Specimen||31208-2|
|2004913||MUTYH-Associated Polyposis 2 Mut Interp||40959-9|
- Familial Adenomatous Polyposis
- MAP mutation assay
- MYH-Associated Polyposis 2 Mutations